# Lúpus eritematoso sistêmico

> Página oficial: https://raras.org/doenca/lupus-eritematoso-sistemico
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 536 — https://www.orpha.net/en/disease/detail/536
- **CID-10**: M32.0
- **OMIM**: OMIM:152700 — https://omim.org/entry/152700

## Descrição clínica

Doença autoimune de múltiplos órgãos tipicamente associada a vasculopatia e produção de autoanticorpos. A maioria dos pacientes apresenta anticorpos antinucleares (ANA). A presença de anticorpos anti-dsDNA ou anti-Smith é altamente específica.

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000
- **Padrão de herança**: Not applicable

## Sinais e sintomas (155 fenótipos HPO)

- **Hematúria** — HPO: HP:0000790 (Frequente (79-30%))
- **Concentração elevada de creatinina circulante** — HPO: HP:0003259
- **Mialgia** — HPO: HP:0003326
- **Formação de crescente glomerular** — HPO: HP:0033316
- **Infecções cutâneas recorrentes** — HPO: HP:0001581
- **Urticária** — HPO: HP:0001025
- **Hipoalbuminemia** — HPO: HP:0003073
- **Otite média** — HPO: HP:0000388
- **Atraso no desenvolvimento cognitivo** — HPO: HP:0033319
- **Dor no joelho** — HPO: HP:0030839
- **Edema pedal** — HPO: HP:0010741
- **Infecções recorrentes do trato respiratório inferior** — HPO: HP:0002783
- **Oligúria** — HPO: HP:0100520
- **Edema periorbital** — HPO: HP:0100539
- **Bronquiectasia** — HPO: HP:0002110
- **Anemia hemolítica autoimune** — HPO: HP:0001890
- **Positividade do anticorpo IgG anticardiolipina** — HPO: HP:0020136
- **Positividade do anticorpo anti-mieloperoxidase** — HPO: HP:0033559
- **Pneumonia recorrente** — HPO: HP:0006532
- **Infecções recorrentes** — HPO: HP:0002719
- **Atraso no desenvolvimento da resolução de problemas** — HPO: HP:0033604
- **Xerostomia** — HPO: HP:0000217
- **Doença renal crônica estágio 5** — HPO: HP:0003774
- **Febres inexplicáveis** — HPO: HP:0001955
- **Anomalia do desenvolvimento do cerebelo** — HPO: HP:0025363
- **Infecções respiratórias recorrentes** — HPO: HP:0002205
- **Prurido** — HPO: HP:0000989
- **Concentração elevada de proteína C-reativa circulante** — HPO: HP:0011227
- **Suores noturnos** — HPO: HP:0030166
- **Deficiência de complemento** — HPO: HP:0004431
- **Eritema facial** — HPO: HP:0001041
- **Rigidez matinal generalizada** — HPO: HP:0005197
- **Herança autossômica dominante** — HPO: HP:0000006
- **Colestase** — HPO: HP:0001396
- **Eletrofisiologia anormal da origem do nó sinoatrial** — HPO: HP:0011702
- **Displasia esquelética** — HPO: HP:0002652
- **Morfologia anormal da substância branca cerebral** — HPO: HP:0002500
- **Hepatomegalia** — HPO: HP:0002240
- **Anemia** — HPO: HP:0001903
- **Contagem total de neutrófilos diminuída** — HPO: HP:0001875
- _...e mais 115 sintomas. Ver https://raras.org/doenca/lupus-eritematoso-sistemico._

## Genes associados (36)

- **ITGAM** — Integrin alpha-M [Major susceptibility factor in]
  - Função: Integrin ITGAM/ITGB2 is implicated in various adhesive interactions of monocytes, macrophages and granulocytes as well as in mediating the uptake of complement-coated particles and pathogens (PubMed:2
- **FCGR2A** — Low affinity immunoglobulin gamma Fc region receptor II-a [Candidate gene tested in]
  - Função: Binds to the Fc region of immunoglobulins gamma. Low affinity receptor. By binding to IgG it initiates cellular responses against pathogens and soluble antigens. Promotes phagocytosis of opsonized ant
- **C1R** — Complement C1r subcomponent [Candidate gene tested in]
  - Função: Serine protease component of the complement C1 complex, a multiprotein complex that initiates the classical pathway of the complement system, a cascade of proteins that leads to phagocytosis and break
- **C1QA** — Complement C1q subcomponent subunit A [Candidate gene tested in]
  - Função: Core component of the complement C1 complex, a multiprotein complex that initiates the classical pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pat
- **SAT1** — Sulfate anion transporter 1 [Candidate gene tested in]
  - Função: Sodium-independent sulfate anion transporter (PubMed:12713736, PubMed:27125215). Can transport other anions including bicarbonate, thiosulfate and oxalate by mediating sulfate-thiosulfate, sulfate-hyd
- **DNASE1L3** — Deoxyribonuclease gamma [Disease-causing germline mutation(s) in]
  - Função: Has DNA hydrolytic activity. Is capable of both single- and double-stranded DNA cleavage, producing DNA fragments with 3'-OH ends (By similarity). Can cleave chromatin to nucleosomal units and cleaves
- **PLD4** — 5'-3' exonuclease PLD4 [Disease-causing germline mutation(s) in]
  - Função: 5'->3' exonuclease that hydrolyzes the phosphodiester bond of single-stranded DNA (ssDNA) and RNA molecules to form nucleoside 3'-monophosphates and 5'-end 5'-hydroxy deoxyribonucleotide/ribonucleotid
- **UBE2L3** — Ubiquitin-conjugating enzyme E2 L3 [Major susceptibility factor in]
  - Função: Ubiquitin-conjugating enzyme E2 that specifically acts with HECT-type and RBR family E3 ubiquitin-protein ligases. Does not function with most RING-containing E3 ubiquitin-protein ligases because it l
- **TNFAIP3** — Tumor necrosis factor alpha-induced protein 3 [Major susceptibility factor in]
  - Função: Ubiquitin-editing enzyme that contains both ubiquitin ligase and deubiquitinase activities. Involved in immune and inflammatory responses signaled by cytokines, such as TNF and IL-1 beta, or pathogens
- **SPP1** — Sphingosine-1-phosphate phosphatase 1 [Major susceptibility factor in]
  - Função: Specifically dephosphorylates sphingosine 1-phosphate (S1P), dihydro-S1P, and phyto-S1P. Does not act on ceramide 1-phosphate, lysophosphatidic acid or phosphatidic acid (PubMed:16782891). Sphingosine
- **TNFSF4** — Tumor necrosis factor ligand superfamily member 4 [Major susceptibility factor in]
  - Função: Cytokine that binds to TNFRSF4. Co-stimulates T-cell proliferation and cytokine production
- **TREX1** — Three-prime repair exonuclease 1 [Major susceptibility factor in]
  - Função: Major cellular 3'-to-5' DNA exonuclease which digests single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA) with mismatched 3' termini (PubMed:10391904, PubMed:10393201, PubMed:17293595). Preven
- **TNIP1** — TNFAIP3-interacting protein 1 [Major susceptibility factor in]
  - Função: Inhibits NF-kappa-B activation and TNF-induced NF-kappa-B-dependent gene expression by regulating TAX1BP1 and A20/TNFAIP3-mediated deubiquitination of IKBKG; proposed to link A20/TNFAIP3 to ubiquitina
- **TLR7** — Toll-like receptor 7 [Disease-causing germline mutation(s) in]
  - Função: Endosomal receptor that plays a key role in innate and adaptive immunity (PubMed:14976261, PubMed:32433612). Controls host immune response against pathogens through recognition of uridine-containing s
- **STAT4** — Signal transducer and activator of transcription 4 [Major susceptibility factor in]
  - Função: Transcriptional regulator mainly expressed in hematopoietic cells that plays a critical role in cellular growth, differentiation and immune response (PubMed:10961885, PubMed:37256972, PubMed:8943379).

## Ensaios clínicos ativos (40)

- **NCT07219563** [RECRUITING]: Alnuctamab for Refractory SLE (LATTE Study) — https://clinicaltrials.gov/study/NCT07219563
- **NCT03816345** [RECRUITING]: Testing an Immunotherapy Anti-cancer Drug, Nivolumab, for Advanced Cancers in Patients With Autoimmune Disorders, AIM-NIVO — https://clinicaltrials.gov/study/NCT03816345
- **NCT06314282** [RECRUITING]: INTERSTELLAR - International Study Evaluating Lupus Outcomes After Anifrolumab Real World Use — https://clinicaltrials.gov/study/NCT06314282
- **NCT07276958** [RECRUITING]: A Study of LY4298445 in Healthy Participants and Participants With Systemic Lupus Erythematosus (SLE) or Rheumatoid Arthritis (RA) — https://clinicaltrials.gov/study/NCT07276958
- **NCT06659029** [RECRUITING]: Prospective Registry Investigating Maternal and Infant Outcomes in Anifrolumab Users — https://clinicaltrials.gov/study/NCT06659029
- **NCT05567198** [RECRUITING]: Gonadotropin-releasing Hormone Agonist (GnRHa) in Ovarian Preservation in SLE Subjects Receiving Cyclophosphamide as Determined by Questionnaires — https://clinicaltrials.gov/study/NCT05567198
- **NCT07526350** [RECRUITING]: MTS109 in Patients With Refractory Autoimmune Diseases — https://clinicaltrials.gov/study/NCT07526350
- **NCT07087912** [RECRUITING]: Safety and Immunogenicity of the Live Attenuated Tetravalent Butantan-Dengue Vaccine in Autoimmune Rheumatic Diseases — https://clinicaltrials.gov/study/NCT07087912
- **NCT05934149** [RECRUITING]: Lupus Landmark Study: A Prospective Registry and Biorepository — https://clinicaltrials.gov/study/NCT05934149
- **NCT06434363** [RECRUITING]: Phase I/II Study of AD-PluReceptor Plus Tafasitamab-cxix and Lymphodepleting Chemotherapy in Patients With Autoimmune Disorders — https://clinicaltrials.gov/study/NCT06434363

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- [Complicação após transplante de órgão](https://raras.org/doenca/complicacao-apos-transplante-de-orgao) — ORPHA:306644 — 34 sintomas em comum
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## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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